Epilepsy Phenome/Genome Project
Summary
The purpose of this study is to collect detailed information about the characteristics and genetics of a large number of individuals with epilepsy.
Description
Epilepsy is one of the most common neurological disorders and is a major public health concern. Approximately 30 percent of people with epilepsy have medically intractable epilepsy, and the medical and social consequences of the disorder are enormous. Treatments developed for epilepsy have largely been experimental rather than based on knowledge of basic mechanisms because the mechanisms are poorly understood.
The Epilepsy Phenome/Genome Project (EPGP) is a large-scale, national, multi-institutional, collaborative research project aimed at advancing the understanding of the genetic basis of the most common forms of epilepsy.
The overall goal of EPGP is to collect detailed, high quality phenotypic (i.e., characteristics of individuals, from the molecular level to the whole person) information on persons with epilepsy and controls (persons without epilepsy), and to compare the phenotypic information with genomic information. EPGP will provide a national resource that may lead to many discoveries related to the diagnosis and treatment of epilepsy, including the eventual development of new therapies based on a better understanding of causes of the disorder.
Study Design
Observational Model: Case Control, Time Perspective: Prospective
Conditions
Epilepsy
Location
University of Alabama at Birmingham, Epilepsy Center, 1719 6th Ave S, CIRC, Ste 312
Birmingham
Alabama
United States
35294
Status
Recruiting
Source
University of California, San Francisco
Results (where available)
Links
- Source: http://clinicaltrials.gov/show/NCT00552045
- Information obtained from ClinicalTrials.gov on July 15, 2010
Medical and Biotech [MESH] Definitions
Myoclonic Epilepsy, Juvenile
A disorder characterized by the onset of myoclonus in adolescence, a marked increase in the incidence of absence seizures (see EPILEPSY, ABSENCE), and generalized major motor seizures (see EPILEPSY, TONIC-CLONIC). The myoclonic episodes tend to occur shortly after awakening. Seizures tend to be aggravated by sleep deprivation and alcohol consumption. Hereditary and sporadic forms have been identified. (From Adams et al., Principles of Neurology, 6th ed, p323)
Epilepsy
A disorder characterized by recurrent episodes of paroxysmal brain dysfunction due to a sudden, disorderly, and excessive neuronal discharge. Epilepsy classification systems are generally based upon: (1) clinical features of the seizure episodes (e.g., motor seizure), (2) etiology (e.g., post-traumatic), (3) anatomic site of seizure origin (e.g., frontal lobe seizure), (4) tendency to spread to other structures in the brain, and (5) temporal patterns (e.g., nocturnal epilepsy). (From Adams et al., Principles of Neurology, 6th ed, p313)
Mephenytoin
An anticonvulsant effective in tonic-clonic epilepsy (EPILEPSY, TONIC-CLONIC). It may cause blood dyscrasias.
Epilepsy, Rolandic
An autosomal dominant inherited partial epilepsy syndrome with onset between age 3 and 13 years. Seizures are characterized by PARESTHESIA and tonic or clonic activity of the lower face associated with drooling and dysarthria. In most cases, affected children are neurologically and developmentally normal. (From Epilepsia 1998 39;Suppl 4:S32-S41)
Epilepsy, Reflex
A subtype of epilepsy characterized by seizures that are consistently provoked by a certain specific stimulus. Auditory, visual, and somatosensory stimuli as well as the acts of writing, reading, eating, and decision making are examples of events or activities that may induce seizure activity in affected individuals. (From Neurol Clin 1994 Feb;12(1):57-8)
Clinical Trials
Genetic Study of Familial Epilepsy
OBJECTIVES: I. Determine the chromosomal regions that contain genes that raise the risk of epilepsy in families by performing genetic linkage analysis of idiopathic/cryptogenic epilepsy.
SANTE - Stimulation of the Anterior Nucleus of the Thalamus for Epilepsy
The purpose of this research is to study the safety and effectiveness of electrical stimulation to treat uncontrolled seizures in adults with epilepsy.
Brain Stimulation for Epilepsy Long Term Follow-up
The purpose of this study is to collect subject data to evaluate the rate of sudden unexplained death in epilepsy (SUDEP) with bilateral neurostimulation of the anterior nucleus of the tha...
Scholar Performance and Praxis Assessment in Children With Rolandic Epilepsy
Rolandic Epilepsy is the most common form of childhood epilepsy. It is classified as idiopathic, age-related epilepsy syndrome with benign evolution. The absence of neuropsychological impa...
A Study to Evaluate the Dosing, Effectiveness and Safety of Topiramate for the Treatment of Epilepsy
The purpose of this study is to identify patient characteristics (such as baseline seizure frequency) that may predict effective doses of topiramate using just that one drug (monotherapy)...
PubMed Articles
Epilepsy research: Occurrences of sudden death in dogs with epilepsy may be numbered.
Genetic evaluation and counseling for epilepsy.
The contribution of genetics to both rare and common epilepsies is rapidly being elucidated, and neurologists are routinely considering genetic testing in the work-up of several epilepsy syndromes of...
Late-onset, praxis-induced myoclonic epilepsy.
Praxis-induction of seizures is an interesting subset of reflex epilepsy in which seizures are induced by higher mental activities associated with the use of part of the body. Reflex traits have often...
Effectiveness of a first aid information video in reducing epilepsy-related stigma.
The effectiveness of a knowledge-based intervention in increasing levels of knowledge about epilepsy and reducing negative stereotypes toward people with epilepsy was examined. University psychology s...
Bathing epilepsy: a video case of an autonomic seizure.
A six-year-old Moroccan boy experienced nausea, paleness and oral automatisms after almost every shower. A clinical diagnosis of bathing epilepsy was assumed. A video-EEG recording was taken during an...
